Human Phenotype Ontology 
Grandparent Node:
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Abnormal thorax morphology (HP:0000765)help
Parent Node:
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Abnormal sternum morphology (HP:0000766)help
..Starting node
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Prominent sternum (HP:0000884)help
Term ID: 884
Name: Prominent sternum
Synonym: Prominent sternum; Sternal protrusion
Definition:
Comments:
Reference: HP:0000884
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal sternal ossification (HP:0011863) help
..expandAbnormality of the xiphoid process (HP:0100892) help
..expandAplasia/Hypoplasia of the sternum (HP:0006714) help
..expandBifid sternum (HP:0010309) help
..expandBulging of the costochondral junction (HP:0000893) help
..expandPectus carinatum (HP:0000768) help
..expandPectus excavatum (HP:0000767) help
..expandRachitic rosary (HP:0000897) help
..expandSternal punctate calcifications (HP:0006637) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000884HP:0000884Prominent sternum0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0000884HP:0000884Prominent sternum0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0000884HP:0000884Prominent sternum0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000884HP:0000884Prominent sternum0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000884HP:0000884Prominent sternum0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000884HP:0000884Prominent sternum0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000884HP:0000884Prominent sternum0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0000884HP:0000884Prominent sternum0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000884HP:0000884Prominent sternum0GATA6 CL E G H26274174ORPHA:2140Congenital diaphragmatic herniaHP:0040282 - Frequent37
HP:0000884HP:0000884Prominent sternum0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000884HP:0000884Prominent sternum0LONP1 CL E G H93619479ORPHA:2140Congenital diaphragmatic herniaHP:0040282 - Frequent8
HP:0000884HP:0000884Prominent sternum0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000884HP:0000884Prominent sternum0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000884HP:0000884Prominent sternum0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000884HP:0000884Prominent sternum0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0000884HP:0000884Prominent sternum0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000884HP:0000884Prominent sternum0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000884HP:0000884Prominent sternum0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0000884HP:0000884Prominent sternum0ZFPM2 CL E G H2341416700ORPHA:2140Congenital diaphragmatic herniaHP:0040282 - Frequent31


Genes (15) :AIFM1 ARSB BMP2 DLK1 DYM GALNS GATA6 GLB1 LONP1 MEG3 PRKG2 RMRP RTL1 WNT7A ZFPM2

Diseases (13) :OMIM:300232 OMIM:253200 OMIM:617877 ORPHA:254528 ORPHA:96334 OMIM:223800 OMIM:607326 OMIM:253000 ORPHA:2140 OMIM:253010 OMIM:619636 OMIM:250250 OMIM:276820
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.